Pages I - XI
|2.||Evaluation of Abnormal Uterine Bleeding in Adolescents: Single Center Experience|
Sirmen Kızılcan Çetin, Zehra Aycan, Elif Özsu, Zeynep Şıklar, Ayşegül Ceran, Seda Erişen Karaca, Gizem Şenyazar, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2023.2022-10-7 Pages 230 - 237
INTRODUCTION: Abnormal uterine bleeding (AUB) is the most common gynecologic complaint in adolescent girls. The aim of this study was to identify the diagnostic and management differences between those with/without heavy menstrual bleeding.
METHODS: Retrospective data was collected from adolescents aged 10-19 years, diagnosed with AUB. Adolescents with known bleeding disorders at admission were excluded. All girls were classified according to the degree of anemia; group 1 had heavy bleeding [hemoglobin (Hb) <10 g/dL] and group 2 had moderate or mild bleeding (Hb >10 g/dL). Admission and follow-up characteristics were compared between the two groups.
RESULTS: The cohort consisted of 79 girls with a mean age of 14.3±1.8 years and mean age of menarche of 11.9±1.4 years, with 85% experiencing menstrual irregularity in the two years after menarche, rising to 95.3% in group 1 (p<0.01). Anovulation was evident in 80% of the cohort. Of these 79 girls, 13 (16.5%) had polycystic ovary syndrome and two (2.5%) had structural anomalies (uterus didelphys). Three girls (group 1, n=2) had previously undiagnosed clotting factor VII deficiency; no other clotting deficiencies were diagnosed. Nineteen of 34 (56%) with personal (n=2)/family history of thrombosis had MTHFR mutation. None had venous thromboembolism during follow-up of >6 months.
DISCUSSION AND CONCLUSION: The majority of AUB (85%) occurred in the first two years after menarche. A small proportion (3.8%) had undiagnosed clotting factor deficiency. The frequency of MTHFR mutation was 50% in girls with history of thrombosis; however this did not increase the risk of bleeding/thrombosis and so routine evaluation does not appear to be justified.
|3.||Fear of Hypoglycemia and Longer Disease Duration Associated with Physical Activity Avoidance in Children and Adolescents with Type 1 Diabetes Mellitus|
Büşra Donat Ergin, Işıl Ergin, Damla Gökşen
doi: 10.4274/jcrpe.galenos.2023.2022-9-13 Pages 238 - 247
INTRODUCTION: To determine physical activity (PA) avoidance and its associated factors among children with type 1 diabetes in four situations: leisure time (LT) PA out of school, LT PA at school during breaks, attendance at physical education (PE) classes and activity during PE classes.
METHODS: Cross-sectional study. The cohort consisted of 137 children, aged 9-18 years, with type 1 diabetes registered at a tertiary center between August 2019 and February 2020, 92 of whom attended for face-to-face interview. Responses were rated on a 5-point-Likert scale for PA in the four situations. Never/rarely/occasionally responses were defined as avoidance. Chi-square, parametric/non-parametric comparison and multivariate logistic regression analysis were used to detect and confirm variables associated with each avoidance situation.
RESULTS: Among the children 46.7% avoided PA during LT out of school and 52.2% during breaks, 15.2% avoided PE classes and 25.0% avoided active play during PE classes. Older children (14-18 year-olds) avoided PE classes [odds ratio (OR)=6.49, 95% confidence interval (CI)=1.10-38.13] and PA during breaks [OR=2.85, 95% CI=1.05-7.72] and girls avoided PA out of school (OR=3.18, 95% CI=1.18-8.06) and during breaks (OR=4.12, 95% CI=1.49-11.40). Those who had a sibling (OR=4.50, 95% CI=1.04-19.40) or had a poorly-educated mother (OR=3.63, 95% CI=1.15-11.46) avoided PA during breaks and those from low-income households avoided PE classes (OR=14.93, 95% CI=2.23-99.67). As the duration of disease prolonged, avoiding PA during LT out of school increased (4-9 years; OR=4.21, 95% CI=1.14-15.52 and ≥10 years; OR=5.94, 95% CI=1.20-29.36).
DISCUSSION AND CONCLUSION: Adolescence, gender, and socioeconomic inequalities deserve greater focus for better PA behavior among young people with type 1 diabetes. As the disease duration prolongs, revising and strengthening intervention to encourage PA may be needed.
|4.||Adverse Events Associated with COVID-19 Vaccination in Adolescents with Endocrinological Disorders: A Cross-Sectional Study|
İbrahim Mert Erbaş, İrem Ceren Erbaş, Gözde Akın Kağızmanlı, Kübra Yüksek Acinikli, Özge Besci, Korcan Demir, Ece Böber, Nurşen Belet, Ayhan Abacı
doi: 10.4274/jcrpe.galenos.2023.2022-9-1 Pages 248 - 256
INTRODUCTION: The aim was to evaluate the adverse events seen after Coronavirus disease-2019 (COVID-19) vaccination in pediatric patients with diagnosed endocrinological problems and to compare them with healthy controls.
METHODS: In this cross-sectional study, patients aged 12-18 years who attended a single department between January and May 2022 and were followed up for at least six months due to endocrine diseases, and healthy subjects in the same age group, all of whom had received a COVID-19 vaccine [BNT162b2 mRNA or inactivated vaccine] were included. Adverse events experienced after the vaccination were evaluated by questionnaire.
RESULTS: A total of 160 subjects (85 patients, 75 healthy controls) with a median (25-75p) age of 15.5 (14.1-16.9) years were included. The frequency of adverse events was higher in those vaccinated with the mRNA vaccine compared to the inactivated one after the first dose (p=0.015). The incidence of adverse events observed after the first and second doses of both COVID-19 vaccines was similar in the patient and control groups (p=0.879 and p=0.495, respectively), with local reactions being the most common. The frequency of adverse events was similar among the patients who did or did not receive any endocrinological treatment (p>0.05). The incidence and severity of systemic reactions were similar to those in healthy subjects for both vaccine doses, regardless of the underlying diagnosis, autoimmunity state, or treatment regimen used in patients with endocrine diseases.
DISCUSSION AND CONCLUSION: The incidence and severity of adverse events associated with COVID-19 vaccinations in adolescents with endocrinological disorders were similar to healthy subjects, in the early post-vaccination period.
|5.||Differentiated Thyroid Cancer in Adolescents: Single Center Experience and Considerations for Surgical Management and Radioiodine Treatment|
Costanza Chiapponi, Milan Janis Michael Hartmann, Boris Decarolis, Thorsten Simon, Christiane Josephine Bruns, Michael Faust, Anne Maria Schultheis, Matthias Schmidt, Hakan Alakus
doi: 10.4274/jcrpe.galenos.2023.2023-1-16 Pages 257 - 263
INTRODUCTION: Differentiated thyroid cancer (DTC) in adolescents rare but with a favorable outcome, despite higher rates of cervical lymph node and pulmonary metastasis compared to adults. The aim of this study was to critically evaluate treatment of adolescents with DTC at a single center.
METHODS: Patients receiving postoperative radioiodine treatment (RAIT) for DTC between 2005 and 2020 at our institution were screened to identify adolescents according to the World Health Organization definition (10-19 years of age). Demographics, clinico-pathological characteristics, treatment and outcome were analyzed.
RESULTS: Among 1,897 DTC patients, 23 (1.3%) were adolescents with a median (range) age of 16 (10-18) years. The female to male ratio was 3.6: 1. Sixty percent had classic papillary thyroid cancer, with follicular variant in 40%, which was higher than previously reported (15-25%) for this age group. pT-status was pT1 in 9 (39.2%), pT2 in 8 (34.8%), pT3 in 3 (13%) and pT4 in 3 (13%) patients. In 19 (82.6%) patients, central lymphadenectomy was performed and metastasis was seen in 57%. All patients received RAIT with initial activities of 1.2 (n=1, 4.3%), 2 (n=12, 52.2%) or 3.7 GBq (n=10, 43.5%). Eighteen (78.2%) patients were free of biochemical and radiologic disease at a median follow-up of 60.7 months. Second-line surgery for lymph node relapse was necessary in 3 (13%) cases. There was one disease-associated death.
DISCUSSION AND CONCLUSION: Despite high rates of metastasis, most patients were cured, and second-line surgery was rarely required. Further prospective studies are needed to determine whether less aggressive surgical management or omitting adjuvant RAIT are feasible in patients with limited stages at diagnosis.
|6.||The Effect of the SARS-CoV-2 Pandemic on Presentation with Diabetic Ketoacidosis in Children with New Onset Type 1 Diabetes Mellitus|
Arzu Jalilova, Aysun Ata, Günay Demir, Hafize Işıklar, Yasemin Atik Altınok, Samim Özen, Şükran Darcan, Damla Gökşen
doi: 10.4274/jcrpe.galenos.2023.2022-11-4 Pages 264 - 267
INTRODUCTION: Diabetic ketoacidosis (DKA) is a life-threatening, acute complication of type 1 diabetes mellitus (T1DM). Infection is the most common precipitating factor for DKA, being responsible for more than 50% of such complications. The frequency and severity of DKA in children with T1DM, before and during the coronavirus disease 2019 outbreak were evaluated and compared with pre-pandemic presentation and severity rates.
METHODS: In total, 199 patients younger than 18 years were included in the study. Patients were divided into two groups: the Coronavirus disease-2019 (COVID-19) pandemic group (new onset T1DM presenting from March 2020 to March 2021; the control group included new onset T1DM from March 2016 to March 2020.
RESULTS: The rate of DKA at presentation was similar (p=0.393) during the pandemic period (58.3%) compared to the pre-pandemic years (44.8-64.3%). Although the percentage of DKA was similar, the rate of severe DKA in the COVID-19 group was higher than previous years. Although not significant, the duration of diabetes symptoms was longer in the COVID-19 period than the previous years.
DISCUSSION AND CONCLUSION: This study suggests that the rate of severe DKA, but not the overall rate of DKA, has increased during the COVID-19 pandemic compared to the prior four years. This may be due to the behavior of the parents of sick children and the limited access to the healthcare system. Despite this limited access, parental concern may have been sufficiently high to seek medical attention for their children, avoiding an increased frequency of DKA as the first presentation of new-onset T1DM.
|7.||Growth Hormone Dosing Estimations Based on Body Weight Versus Body Surface Area|
Özge Besci, Reyhan Deveci Sevim, Kübra Yüksek Acinikli, Gözde Akın Kağızmanlı, Sezen Ersoy, Korcan Demir, Tolga Ünüvar, Ece Böber, Ahmet Anık, Ayhan Abacı
doi: 10.4274/jcrpe.galenos.2023.2022-12-18 Pages 268 - 275
INTRODUCTION: Both body weight (BW)- and body surface area (BSA)-based dosing regimens have been recommended for growth hormone (rhGH) replacement. The aim was to compare the two regimens to determine if either resulted in inadequate treatment depending on anthropometric factors.
METHODS: The retrospective study included children diagnosed with idiopathic isolated growth hormone deficiency. BW-based dosing in mcg/kg/day was converted to BSA in mg/m2/day to determine the equivalent amounts of the given rhGH. Those with a BW-to-BSA ratio of more than 1 were allocated to the relatively over-dosed group, while the remaining patients with a ratio of less than 1 were assigned to the relatively under-dosed group. Patients with a height gain greater than 0.5 standard deviation score (SDS) at the end of one year were classified as the height gain at goal (HAG), whereas those with a height gain of less than 0.5 SDS were assigned as the height gain not at goal (NHAG).
RESULTS: The study included 60 patients (18 girls, 30%). Thirty-six (60%) patients were classified as HAG. The ratio of dosing based on BW-to-BSA was positively correlated both with the ages and body mass index (BMI) levels of the patients, leveling off at the age of 11 at a BMI of 18 kg/m2. The relative dose estimations (over- and under-dosed groups) differed significantly between the patients classified as HAG or NHAG. Fifty-six percent of NHAG compared to 44% of HAG patients received relatively higher doses, while 79% of HAG compared to 21% of NHAG received relatively lower doses (p=0.006). When the patients were subdivided according to their pubertal status, higher doses were administrated mostly to the pubertal patients in both the NHAG and HAG groups. In the pre-pubertal age group, 73% of NHAG compared to 27% of HAG received relatively higher doses, while 25% of NHAG compared to 75% of HAG received relatively lower doses (p=0.01).
DISCUSSION AND CONCLUSION: Dosing based on BW may be preferable in both prepubertal and pubertal children who do not show adequate growth responses. In prepubertal children, relatively lower doses calculated based on BW rather than BSA provide similar efficacy at lower costs.
|8.||Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey|
Esin Karakılıç Özturan, Ayşe Pınar Öztürk, Firdevs Baş, Ayşe Burcu Erdoğdu, Seven Kaptan, Aslı Derya Kardelen, Şükran Poyrazoğlu, Melek Yıldız, Neşe Direk, Şahika Yüksel, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2023.2023-1-13 Pages 276 - 284
INTRODUCTION: A significant rise in the number of trans adolescents seeking medical interventions has been reported in recent years. The aim of this study was to report the clinical features, treatment, and follow-up of adolescents with gender dysphoria (GD) with our increased experience.
METHODS: Twenty-six male-to-female (MTF) and twenty-seven female-to-male (FTM) adolescents who were referred to the GD-outpatient clinic between 2016 and 2022 were reviewed. The clinical and laboratory findings of thirty transgender adolescents (15 FTM /15 MTF) who received medical intervention were evaluated retrospectively.
RESULTS: Most individuals (60.4%) were admitted between 2020 and 2022, and the remaining (39.6%) were admitted between 2016 and 2019. At the time of referral, median age was 16.3 years [interquartile range (IQR) 1.53; range 13.2-19.4] in 26 MTF, and 16.4 years (IQR 1.74; range 11.7-21.6) in 27 FTM adolescents. The median age at pubertal blockage with gonadotropin-releasing hormone analog and androgen receptor blocker was 16.4 years (IQR 1.4; range 11.7-17.8) in 22 adolescents (9 MTF, 13 FTM), and 17.4 years (IQR 1.4; range 15.5-19.4) in 6 MTF individuals, respectively. Cross-sex hormone therapy was commenced in 21 adolescents (12 MTF, 9 FTM) at the median age of 17.7 years (IQR 0.61; range 16-19.5). Fifteen individuals (8 MTF, 7 FTM) have been transferred to the adult endocrinology department in transition clinics.
DISCUSSION AND CONCLUSION: All treatments were generally well tolerated and effective, including bicalutamide, and no significant side effects were observed. Transition clinics played an important role in the better management of gender reassignment processes.
|9.||An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience|
Yasemin Denkboy Öngen, Şebnem Özemri Sağ, Şehime Gülsün Temel, Erdal Eren
doi: 10.4274/jcrpe.galenos.2023.2022-11-3 Pages 285 - 292
INTRODUCTION: 22q11.2 deletion syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder. Associated problems in 22q11.2 DS may include cardiac abnormalities, immune dysfunction, facial dysmorphism, with endocrine, genitourinary and gastrointestinal problems, and developmental delay. The aim of this study was to evaluate and present all endocrinological findings of patients with 22q11.2 DS from a single center.
METHODS: All participants had confirmed 22q11.2 DS by fluorescence in situ hybridization with hypoparathyroidism. Data were retrieved by retrospective review of patient records.
RESULTS: A total of 17 patients were reviewed. On physical examination, all patients had similar dysmorphic features. The median age at diagnosis was 45 days (1 day-13 years). Most cases (64.7%, 11/17) were diagnosed with hypoparathyroidism incidentally after routine tests. At the time of diagnosis, mean calcium was 7.04±0.80 mg/dL, phosphorus was 6.2±1.1 mg/dL, and median parathyroid hormone (PTH) was 11.5 (3.7-47.6) ng/L. Transient hypoparathyroidism was detected in five cases (29.4%). There was no significant difference between patients with permanent or transient hypoparathyroidism regarding gender, age at diagnosis, calcium, phosphorus, and PTH levels. However, vitamin D levels were significantly lower in the transient group (p=0.036). During follow-up, short stature, obesity, and type 2 diabetes mellitus were absent. Thyroid autoantibodies were detected in two patients with normal thyroid function tests. Despite there being no pathological short stature, final stature was shorter than the general population (mean height standard deviation score: -0.94±0.83).
DISCUSSION AND CONCLUSION: Hypocalcemia may be detected during acute illness in some cases where hypocalcemia appears at later ages. There was no significant difference between permanent and transient hypoparathyroidism cases in terms of PTH level. Recognition of the more specific facial findings is important to trigger investigation of genetic variants, additional anomalies, and for follow-up.
|10.||Psychometric Properties of the Turkish Validity and Reliability of the Parent Diabetes Distress Scale|
Seher Karahan, Ezgi Ağadayı, Seda Aybüke Sarı, Nurullah Çelik, Ayça Kömürlüoğlu Tan, Esra Döğer
doi: 10.4274/jcrpe.galenos.2023.2023-3-20 Pages 293 - 301
INTRODUCTION: The aim of this study was to evaluate the validity and reliability of the Turkish translation of the Parent Diabetes Distress Scale (PDDS).
METHODS: The PDDS is a 5-point Likert-type scale with 20 items. After obtaining permission from the scale developers, the study commenced. First, a systematic adaptation of the scale into the Turkish language was performed including translation, expert panel review, back translation, and pilot study. Test-retest was applied to 35 participants. After these procedures, data collection was undertaken using the adapted PDDS and a demographic data collection form. The collected data were analyzed for reliability, including stability of the scale with test-retest and internal consistency of the scale (Cronbachs α), and validity including construct validity of the scale with confirmatory factor analysis (CFA).
RESULTS: The parents of 210 teenagers, aged >11 and <18 years, who had been diagnosed with type 1 diabetes mellitus for at least one year were included. Of these parents, 71.9% (n=151) were mothers and 53.3% (n=112) of the children were girls. The Cronbachs α value was 0.906. The results of the CFA were χ2/df=4.406, p<0.001, comparative fit test 0.704, and goodness of fit tests 0.749. The mean total PDDS score was 2.2±0.7. These results indicate that scores of 1.6 points or less was evaluated as little or no distress 1.7-2.4 as moderate distress, and >2.4 points as high distress. This showed that the majority of the parents in the study experienced moderate or severe diabetes-related distress.
DISCUSSION AND CONCLUSION: The Turkish version of the PDDS fulfilled the validity and reliability tests at an acceptable level.
|11.||Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination|
Azza AL Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al-Hashmi, Fathiya Al Murshedi
doi: 10.4274/jcrpe.galenos.2021.2021.0173 Pages 302 - 306
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease, in this case maple syrup urine disease (MSUD), adds more challenges to the already complex management. We report a term neonate who developed symptomatic, non-ketotic hypoglycemia with a blood glucose (BG) level of 1.9 mmol/L at 21-hours of life. A critical sample at that time showed high serum insulin and C-peptide levels confirming the diagnosis of CHI. Tandem mass spectrometry done at the same time was suggestive of MSUD which was confirmed by high performance liquid chromatography. The diagnosis of both conditions was subsequently confirmed by molecular genetic testing. His hypoglycemia was managed with high glucose infusion with medical therapy for CHI and branched chain amino acids (BCAA) restricted medical formula. At the age of four months, a near-total pancreatectomy was done, due to the failure of conventional therapy. Throughout his complicated course, he required meticulous monitoring of his BG and modified plasma amino acid profile aiming to maintain the BG at ≥3.9 mmol/L and levels of the three BCAAs at the disease therapeutic targets for his age. The patient is currently 29 months old and has normal growth and development. This patient is perhaps the only known case of the co-occurrence of CHI with MSUD. Both hypoglycemia and leucine encephalopathy can result in death or permanent neurological damage. The management of CHI and MSUD in combination is very challenging.
|12.||Vasculitis-like Palpable Purpuric Rash Induced by Decapeptyl in a Pediatric Patient Diagnosed Central Precocious Puberty|
Nilüfer Galip, Nermin Ankay, Rüveyde Bundak
doi: 10.4274/jcrpe.galenos.2021.2021.0205 Pages 307 - 311
Central precocious puberty (CPP) is defined as the appearance of secondary sexual signs in girls younger than eight years of age or the onset of menarche before the age of 10 years. Gonadotropin-releasing hormone analogs (GnRHa) are the most effective therapy in CPP. Drug-induced hypersensitivity vasculitis is an inflammation of blood vessels, which may be due to the use of a number of pharmacologic agents. This case report describes drug-induced vasculitis in a girl being treated with Decapeptyl. A 7.25 year-old girl was admitted to Pediatric Endocrinology outpatients with premature breast development. She was diagnosed with CPP on the basis of physical examination and laboratory findings and tripoteline acetate (Decapeptyl®) treatment was initiated. She experienced multiple widespread skin rashes and mild abdominal pain with high temperature eight hours after the second dose of Decapeptyl. She was admitted to hospital with the diagnosis of drug-induced vasculitis and a single dose of intravenous methyl-prednisolone (1 mg/kg) and oral cetirizine was given. Her blood and urine analysis revealed no other organ involvement, other than skin. On the third day, the purpuric lesions began to resolve and had completely disappeared by the sixth day. Her treatment for CPP was switched to Depot Leuprolide acetate and she continued her treatment for two years uneventfully. To the best of our knowledge, this is the first report of a child with CPP experiencing drug-induced vasculitis due to tripotelin injection. Effective treatment may be continued by switching to an alternative gonadotropin releasing hormone analog.
|13.||Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation|
Aleksandra Rojek, Beata Wikiera, Anna Noczynska, Marek Niedziela
doi: 10.4274/jcrpe.galenos.2021.2021.0256 Pages 312 - 37
Mutations in the INSR gene result in rare inherited syndromes causing insulin resistance, such as leprechaunism (Donohue syndrome), Rabson-Mendenhall syndrome and insulin resistance type A. Leprechaunism is an autosomal recessive disorder associated with extreme insulin resistance that leads to hyperinsulinemia, impaired glucose homeostasis, fasting hypoglycemia and postprandial hyperglycemia. Impaired insulin action causes prenatal and postnatal growth retardation. Lipoatrophy, dysmorphic facies, hypertrichosis, macrogenitosomia and hypertrophy of internal organs are also present. A male infant with congenital insulin resistance was born at term after a normal pregnancy with a weight of 1905 g (<3 c), a length of 48 cm (<3 c), and an Apgar score of 10. Intrauterine growth retardation, transient hypoglycemia, pneumonia, urinary tract infection and heart defects [patent foramen ovale (PFO); patent ductus arteriosus (PDA)] were diagnosed after birth. At 5 weeks of age, he was admitted to the regional hospital with severe fever, diarrhea and dehydration. Hyperglycemia was observed (672 mg/dL), and insulin was administered. He was referred to a hospital at 7 weeks of age for suspected neonatal diabetes and hypertrophic cardiomyopathy. The physical examination revealed a loud systolic heart murmur, tachycardia, tachypnea, dysmorphic facies, hypertrichosis, acanthosis nigricans, hypotonia, swollen nipples and enlarged testicles. Glycemic fluctuations (50-250 mg/dL) were observed. The serum insulin concentration was high (maximum 1200 IU/mL) at normoglycemia. Ultrasound of the heart confirmed progressive hypertrophic cardiomyopathy. Leprechaunism was confirmed by genetic analysis of INSR, in which a novel c.320C>G; p. Thr107Arg homozygous missense mutation was found in exon 2.
|14.||Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome|
Abolfazl Heidari, Ali Homaei, Fatemeh Saffari
doi: 10.4274/jcrpe.galenos.2021.2021.0186 Pages 318 - 323
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that lead to vision loss. In this study, clinical findings and genetic study of two siblings with OPPG are presented. Whole exome sequencing of DNA enriched for exonic regions was performed with SureSelect 38Mbp all exon kit v. 7.0. The two siblings presented with different clinical manifestations of OPPG. The younger female sibling had blindness and severe osteoporosis with multiple fractures, while her older brother was also blind but with less severe osteoporosis and no fractures. On analysis, a novel homozygous nonsense mutation (c.351G>A) in exon 2 of LRP5 (NM_002335) was found, predicted to change a tryptophan at 117 to a stop codon (p. Trp117Ter). Thus, a variable phenotype was associated with an identical variant in these two siblings. The novel mutation reported herein expands the spectrum of the underlying genetic pathology of OPPG.
|15.||Non-hormonal Clitoromegaly due to Clitoral Priapism Caused by Appendicitis/Appendectomy|
Büşra Gürpınar Tosun, Ahsen Karagözlü Akgül, Eda Almus, Sadık Abidoğlu, Serap Turan, Abdullah Bereket, Tülay Güran
doi: 10.4274/jcrpe.galenos.2021.2021-8-4 Pages 324 - 328
Clitoromegaly usually develops due to hyperandrogenism. There are a few cases of clitoromegaly described without clinical and biochemical hyperandrogenism. Clitoromegaly due to clitoral priapism and clitoral priapism after appendectomy have not been reported previously. A 7-year-old girl was referred for enlargement of the clitoris. She reported having a mild, pulsating clitoral pain starting three days after an appendectomy operation. Subsequently, painful swelling and an increase in the size of the clitoris was observed. Her growth and physical examination were otherwise normal. Causes of the clitoromegaly due to androgen excess were excluded after a comprehensive work-up. Color Doppler ultrasound revealed a high peak systolic velocity and resistance in the cavernosal artery, consistent with clitoral priapism. The clitoromegaly and associated symptoms improved significantly with oral pseudoephedrine and intracavernosal aspiration. This unique case illustrates that clitoral priapism is a rare, non-hormonal cause of clitoromegaly and may occur after appendectomy. Pseudoephedrine treatment is helpful in alleviating the symptoms.
|16.||Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year|
Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Ozbek
doi: 10.4274/jcrpe.galenos.2022.2022-1-25 Pages 329 - 333
Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has been suggested as an effective treatment option. We present successful treatment with metreleptin in a boy with CGL and results from the first year of follow-up. An eight-month-old boy presented with excessive hair growth and a muscular appearance. On examination he had hypertrichosis, decreased subcutaneous adipose tissue over the whole body and hepatomegaly. Laboratory investigations revealed hypertriglyceridemia, hyperinsulinemia, elevated liver transaminases and low leptin levels. Molecular genetic analysis detected a homozygous, c.465_468delGACT (p.T156Rfs*8) mutation in the BSCL2 gene. A diagnosis of CGL type 2 was considered. Despite dietary intervention, exercise, and treatment with additional omega-3 and metformin, the hypertriglyceridemia, hyperinsulinemia, and elevated liver transaminase levels worsened. Metreleptin treatment was started and after one year hyperphagia had disappeared, and there was dramatic improvement in levels of insulin, hemoglobin A1c, triglycerides and liver transaminases. Hepatosteatosis was lessened and hepatosplenomegaly was much improved. Metreleptin appears to be an effective treatment option in children with CGL that remarkably improved metabolic complications in the presented case. Initiation of metreleptin treatment in the early period may decrease mortality and morbidity, and increase the quality of life in children with CGL.
|LETTER TO THE EDITOR|
|17.||Letter to the Editor Regarding Effect of Propolis on Precocious Puberty in Female Rats - Does Propolis Induce Thelarche and Gynecomastia in Prepubertal Children?|
Elif Eviz, Gül Yeşiltepe Mutlu, Sebahat Yılmaz Ağladıoğlu, Şükrü Hatun
doi: 10.4274/jcrpe.galenos.2023.2023-5-9 Pages 334 - 335
Abstract |Full Text PDF
|18.||Letter to the Editor Regarding Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature|
Subhankar Roy, Abhranil Dhar, Pankaj Singhania, Tapas Chandra Das
doi: 10.4274/jcrpe.galenos.2023.2023-5-13 Pages 336 - 337
Abstract |Full Text PDF